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Details for ARHGEF28:c.743C>G, p.Thr248Arg

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
73072424	73776599

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.743C>G

PROTEIN CHANGE

p.Thr248Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
6.82e-05	6.457e-05	0.0	0.0	0.0	0.0006961	8.849e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.402013	Polymorphism

DBSNP ID

1 combination linked to ARHGEF28:c.743C>G, p.Thr248Arg

1 disease linked to ARHGEF28:c.743C>G, p.Thr248Arg

Amyotrophic lateral sclerosis

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